BFSP1

beaded filament structural protein 1
OMIM: 603307, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green BFSP1 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 33, 611391
Red BFSP1 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Cataract 33, 611391